Van Wyk and Grumbach Syndrome: An Unusual Case and Review of the Literature

BackgroundThe syndrome consisting of primary hypothyroidism, precocious puberty, and massive ovarian cysts was termed Van Wyk and Grumbach syndrome in 1960. Little is known about the effect of the cysts on ovarian tumor markers.CaseA 12-year-old Caucasian female presented with headaches and fatigue. Imaging to evaluate her headaches revealed a pituitary macroadenoma. Soon after her macroadenoma was discovered, she presented to the emergency room with abdominal pain. Imaging at that time revealed massive bilateral ovarian masses with the left measuring 17 × 13 × 8.5 cm and the right measuring 18 × 11 × 10 cm. Ovarian tumor markers were drawn at this time, most of which were highly elevated. Subsequent evaluation revealed extreme hypothyroidism.Given these findings of a pituitary macroadenoma, bilateral ovarian masses, and severe hypothyroidism, the patient was diagnosed with Van Wyk and Grumbach syndrome. We followed the cyst conservatively and the ovaries and tumor markers returned to normal after adequate thyroid replacement.CommentsThis case supports conservative treatment as the first-line approach to massive ovarian cysts caused by hypothyroidism. In addition this case shows that tumor markers can be abnormal in the absence of a malignancy in this setting. Before proceeding with surgical evaluation, exclusion of hypothyroidism to exclude this rare but treatable syndrome should be undertaken. The most important diagnostic clue that the cyst may be caused by an endocrine source is the finding of bilateral ovarian cysts rather than one ovary affected as seen in most ovarian malignancies in this age group.